Barth syndrome

Barth syndrome is an X-linked recessive disease characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutro-penia, and 3-methylglutaconic aciduria. The Barth syndrome was first described as a mitochondrial disease leading to neutropenia and skeletal and cardiac myopathy. A deeper...

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Bibliographic Details
Main Authors: I. V. Leontyeva, Yu. M. Belozerov, E. A. Nikolaeva
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/152